Conditions / Syndrome
cerebrocostomandibular syndrome
info · Syndrome
A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.
Signs and symptoms
- Pierre-Robin sequence
- Cleft palate
- Posterior rib gap
- Epicanthus
- Congenital hip dislocation
- Thoracic hypoplasia
- Ectopic kidney
- Gastroesophageal reflux
- Glossoptosis
- Horseshoe kidney
Also known as: CCM syndrome; CCMS; cerebro-costo-mandibular syndrome; rib gap defects with micrognathia